Allele Registry

Canonical Allele Identifier: PA658663747

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000517827

RCV000654852

RCV000789837

RCV002248750

RCV002350137

ClinVar Variation:

447435

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Arg183His	CA413503111 NM_001097642.3:c.548G>A